ArticleGenetics2004
The allele frequency spectrum in genome-wide human variation data reveals signals of differential demographic history in three large world populations.
Article in Genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 185 papers.
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Who cites it
185 citing papers in PubMed.
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- Article
- Reconstruction of the genetic history of the Austro-Asiatic- and Dravidian-speaking tribal populations of South Asia.iScience · 2026Article
- Inference of population demographic history captures differing evolutionary signals based on the number of individuals in the dataset.bioRxiv : the preprint server for biology · 2026Article
- Integrating Genomic and Climate Data to Design Representative Seed Production Areas: A Pragmatic Workflow for Climate-Adjusted Provenancing.Ecology and evolution · 2026Article
- Exploring genetic diversity and selective signatures, a journey through Colombian cassava's landscape.Journal of plant research · 2026Article
- Low-Coverage Whole-Genome Analysis of Population Structure, Bottlenecks, and Selection in Indiana Bats Before and After White-Nose Syndrome.Molecular ecology · 2025Article
- Role of PRKCZ non-synonymous genetic variants in breast cancer development.Cancer cell international · 2025Article
- GHIST 2024: The First Genomic History Inference Strategies Tournament.Molecular biology and evolution · 2025Article
- Interpreting Supervised Machine Learning Inferences in Population Genomics Using Haplotype Matrix Permutations.Molecular biology and evolution · 2025Article
- High resolution class I HLA-A, -B, and -C diversity in Eastern and Southern African populations.Scientific reports · 2025Article
- Local Adaptation Is Highest in Populations With Stable Long-Term Growth.Ecology letters · 2025Article
- Modeling Biases from Low-Pass Genome Sequencing to Enable Accurate Population Genetic Inferences.Molecular biology and evolution · 2025Article
- Parallel genetic adaptation amid a background of changing effective population sizes in divergent yellow perch (Proceedings. Biological sciences · 2025Article
- Computationally Efficient Demographic History Inference from Allele Frequencies with Supervised Machine Learning.Molecular biology and evolution · 2024Article
- Computationally efficient demographic history inference from allele frequencies with supervised machine learning.bioRxiv : the preprint server for biology · 2024Article
- The Impact of Recent Demography on Functional Genetic Variation in North African Human Groups.Molecular biology and evolution · 2024Article
- Timesweeper: accurately identifying selective sweeps using population genomic time series.Genetics · 2023Article
125 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors.
Funding
Abstract
We have studied a genome-wide set of single-nucleotide polymorphism (SNP) allele frequency measures for African-American, East Asian, and European-American samples. For this analysis we derived a simple, closed mathematical formulation for the spectrum of expected allele frequencies when the sampled populations have experienced nonstationary demographic histories. The direct calculation generates the spectrum orders of magnitude faster than coalescent simulations do and allows us to generate spectra for a large number of alternative histories on a multidimensional parameter grid. Model-fitting experiments using this grid reveal significant population-specific differences among the demographic histories that best describe the observed allele frequency spectra. European and Asian spectra show a bottleneck-shaped history: a reduction of effective population size in the past followed by a recent phase of size recovery. In contrast, the African-American spectrum shows a history of moderate but uninterrupted population expansion. These differences are expected to have profound consequences for the design of medical association studies. The analytical methods developed for this study, i.e., a closed mathematical formulation for the allele frequency spectrum, correcting the ascertainment bias introduced by shallow SNP sampling, and dealing with variable sample sizes provide a general framework for the analysis of public variation data.
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